Anterior baement membrane corneal dytrophy and peudo-unilateral lattice corneal dytrophy in a patient with recurrent corneal eroion

Purpoe To report the utility of genetic teting in the diagnoi and management of patient with upected corneal dytrophie. Deign Cae report. Method A 58-year-old man with a hitory of recurrent corneal eroion wa diagnoed with bilateral anterior baement membrane dytrophy and unilateral lattice corneal dytrophy. All 17 exon of the TGFBI gene were creened for mutation previouly aociated with lattice corneal dytrophy a well a novel coding region change. Reult No mutation were found in the 17 exon of the TGFBI gene. A nucleotide change in exon 6 (651C>G) did not reult in a change in the encoded amino acid (Leu217Leu). Concluion In cae of upected TGFBI corneal dytrophie, genetic teting i a ueful tool to confirm the clinical diagnoi. In thi cae of upected unilateral lattice corneal dytrophy, creening of the TGFBI gene ruled out the diagnoi, raiing the poibility that the corneal change were related to the coexitent anterior baement membrane dytrophy.